A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524749



Internal ID18823030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84076117..84308291hg38UCSC Ensembl
Innerchr12:84469896..84702070hg19UCSC Ensembl
Innerchr12:82994027..83226201hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38232175
hg19232175
hg18232175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043204
Supporting Variants
Samples
Known GenesMIR548T
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524749
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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